Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233673 | SCV001406278 | pathogenic | Ataxia-telangiectasia syndrome | 2019-07-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His1397Profs*2) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002327562 | SCV002628515 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-04 | criteria provided, single submitter | clinical testing | The c.4189dupC pathogenic mutation, located in coding exon 27 of the ATM gene, results from a duplication of C at nucleotide position 4189, causing a translational frameshift with a predicted alternate stop codon (p.H1397Pfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV004033208 | SCV004930724 | pathogenic | Familial cancer of breast | 2024-01-23 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |